Incidental Mutation 'R4682:Pcyt1b'
ID 350095
Institutional Source Beutler Lab
Gene Symbol Pcyt1b
Ensembl Gene ENSMUSG00000035246
Gene Name phosphate cytidylyltransferase 1, choline, beta isoform
Synonyms CTTbeta
MMRRC Submission 041934-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.475) question?
Stock # R4682 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 92698469-92793557 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 92789970 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Histidine at position 318 (P318H)
Ref Sequence ENSEMBL: ENSMUSP00000109566 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045898] [ENSMUST00000113933]
AlphaFold Q811Q9
Predicted Effect probably damaging
Transcript: ENSMUST00000045898
AA Change: P348H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000044280
Gene: ENSMUSG00000035246
AA Change: P348H

DomainStartEndE-ValueType
Pfam:CTP_transf_like 80 208 2e-33 PFAM
low complexity region 319 339 N/A INTRINSIC
low complexity region 346 362 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113933
AA Change: P318H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109566
Gene: ENSMUSG00000035246
AA Change: P318H

DomainStartEndE-ValueType
Pfam:CTP_transf_2 50 178 1.1e-24 PFAM
low complexity region 289 309 N/A INTRINSIC
low complexity region 316 332 N/A INTRINSIC
Meta Mutation Damage Score 0.0989 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 94% (45/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the cytidylyltransferase family. It is involved in the regulation of phosphatidylcholine biosynthesis. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous null mice reduced fertility, abnormal ovaries with absent corpora lutea and follicles, benign ovarian tumors, seminiferous tubule degeneration, and reduced spermatogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc1 A G 2: 128,505,925 (GRCm39) V637A probably benign Het
Aurkc G A 7: 6,998,538 (GRCm39) V33M probably null Het
Crybg2 CTTCCAGAGCCATGGACCCATCTTTTCCA CTTCCA 4: 133,800,029 (GRCm39) probably null Het
Dapk1 T A 13: 60,898,961 (GRCm39) S810R probably benign Het
Dpm2 C T 2: 32,462,290 (GRCm39) probably benign Het
Fgb A T 3: 82,950,572 (GRCm39) F394Y probably benign Het
Fry A G 5: 150,346,219 (GRCm39) Y1576C probably damaging Het
Gabra4 T C 5: 71,815,152 (GRCm39) M1V probably null Het
Grhl1 T G 12: 24,658,432 (GRCm39) V359G probably benign Het
Hdac5 T C 11: 102,097,456 (GRCm39) S158G probably null Het
Hdgfl1 T C 13: 26,953,230 (GRCm39) E281G possibly damaging Het
Igfn1 T C 1: 135,926,363 (GRCm39) E29G probably benign Het
Inpp1 T C 1: 52,833,760 (GRCm39) N112S probably benign Het
Itih1 C A 14: 30,659,800 (GRCm39) A279S probably damaging Het
Mad1l1 A T 5: 140,286,007 (GRCm39) M296K possibly damaging Het
Mark4 T C 7: 19,179,097 (GRCm39) probably null Het
Mrpl48 T A 7: 100,198,576 (GRCm39) D192V probably damaging Het
Myo1c C T 11: 75,560,856 (GRCm39) R770* probably null Het
Nckap5 A T 1: 126,030,279 (GRCm39) probably null Het
Nlrp4d T C 7: 10,108,879 (GRCm39) T731A noncoding transcript Het
Or4d6 T C 19: 12,086,049 (GRCm39) Y287C probably damaging Het
Plekhm3 T C 1: 64,977,086 (GRCm39) D128G possibly damaging Het
Ppp1r9a A G 6: 4,905,477 (GRCm39) T11A possibly damaging Het
Rlig1 T C 10: 100,414,243 (GRCm39) I139V probably benign Het
Rnf138 T A 18: 21,143,791 (GRCm39) Y112N probably damaging Het
Scn9a A T 2: 66,377,362 (GRCm39) V442E probably benign Het
Slc36a4 C A 9: 15,638,144 (GRCm39) S190* probably null Het
Slc46a1 A G 11: 78,359,502 (GRCm39) K378R possibly damaging Het
Snai2 T C 16: 14,526,150 (GRCm39) V267A probably benign Het
Srrm2 T A 17: 24,034,666 (GRCm39) S533T probably benign Het
St6galnac4 T A 2: 32,484,111 (GRCm39) M103K probably damaging Het
Tap2 C A 17: 34,433,006 (GRCm39) Y429* probably null Het
Traf7 T C 17: 24,732,348 (GRCm39) K159E probably damaging Het
Zfp111 T G 7: 23,898,563 (GRCm39) K349N probably damaging Het
Zfp462 A G 4: 55,011,376 (GRCm39) Y1114C probably damaging Het
Other mutations in Pcyt1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00788:Pcyt1b APN X 92,778,515 (GRCm39) missense probably benign 0.09
IGL02043:Pcyt1b APN X 92,745,722 (GRCm39) missense possibly damaging 0.73
R4683:Pcyt1b UTSW X 92,789,970 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTAAGCCGTACCCAGAATTGC -3'
(R):5'- AAAGAGCTGGCCCTAGTAACTC -3'

Sequencing Primer
(F):5'- CCGTACCCAGAATTGCTGTGTTAAG -3'
(R):5'- TGGCCCTAGTAACTCCCATGG -3'
Posted On 2015-10-08